Výsledky vyhledávání - Petter Strømme

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  1. 1
    X-linked Angelman-like syndrome caused by Slc9a6 knockout in mice exhibits evidence of endosomal–lysosomal dysfunction

    X-linked Angelman-like syndrome caused by Slc9a6 knockout in mice exhibits evidence of endosomal–lysosomal dysfunction Autor Petter Strømme, Kostantin Dobrenis, Roy V. Sillitoe, Maria Gulinello, Nafeeza Ali, Cristin Davidson, Matthew C. Micsenyi, Gloria Stephney, Linda Ellevog, Arne Klungland, Steven U. Walkley

    Vydáno 2011
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  2. 2
    Natural history of Christianson syndrome

    Natural history of Christianson syndrome Autor Richard J. Schroer, Kenton R. Holden, Patrick Tarpey, Maria Giselle Matheus, David A. Griesemer, Michael J. Friez, Jane Fan, Richard J. Simensen, Petter Strømme, Roger E. Stevenson, Michael R. Stratton, Charles E. Schwartz

    Vydáno 2010
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  3. 3
    A novel type of rhizomelic chondrodysplasia punctata, RCDP5, is caused by loss of the PEX5 long isoform

    A novel type of rhizomelic chondrodysplasia punctata, RCDP5, is caused by loss of the PEX5 long isoform Autor Tuva Barøy, Janet Koster, Petter Strømme, Merel S. Ebberink, Doriana Misceo, Sacha Ferdinandusse, Asbjørn Holmgren, Timothy Hughes, Else Merckoll, Jostein Westvik, Berit Woldseth, John H. Walter, Nicholas Wood, Bjørn Tvedt, Kristine Stadskleiv, Ronald J. A. Wanders, Hans R. Waterham, Eirik Frengen

    Vydáno 2015
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  4. 4
    Mutated Thyroid Hormone Transporter OATP1C1 Associates with Severe Brain Hypometabolism and Juvenile Neurodegeneration

    Mutated Thyroid Hormone Transporter OATP1C1 Associates with Severe Brain Hypometabolism and Juvenile Neurodegeneration Autor Petter Strømme, Stefan Groeneweg, Elaine C. Souza, Chantal Zevenbergen, Anette Torgersbråten, Asbjørn Holmgren, Ebrar Gurcan, Marcel E. Meima, Robin P. Peeters, W. Edward Visser, Linda Høneren Johansson, Almira Babovic, Henrik Zetterberg, Heike Heuer, Eirik Frengen, Doriana Misceo, Theo J. Visser

    Vydáno 2018
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  5. 5
    Human TGF-β1 deficiency causes severe inflammatory bowel disease and encephalopathy

    Human TGF-β1 deficiency causes severe inflammatory bowel disease and encephalopathy Autor Daniel Kotlarz, Benjamin Marquardt, Tuva Barøy, Way Seah Lee, Liza Konnikova, Sebastian Hollizeck, Thomas Magg, Anna S. Lehle, Christoph Walz, Ingo Borggraefe, Fabian Hauck, Philip Bufler, Raffaele Conca, Sarah Wall, Eva Schumacher, Doriana Misceo, Eirik Frengen, Beint S. Bentsen, Holm H. Uhlig, Karl‐Peter Hopfner, Aleixo M. Muise, Scott B. Snapper, Petter Strømme, Christoph Klein

    Vydáno 2018
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  6. 6
    Clinical spectrum of 4H leukodystrophy caused by <i>POLR3A</i> and <i>POLR3B</i> mutations

    Clinical spectrum of 4H leukodystrophy caused by <i>POLR3A</i> and <i>POLR3B</i> mutations Autor Nicole I. Wolf, Adeline Vanderver, Rosalina M.L. van Spaendonk, Raphael Schiffmann, Bernard Brais, Marianna Bugiani, Erik A. Sistermans, Coriene E. Catsman‐Berrevoets, Johan M. Kros, Pedro Soares Pinto, Daniela Pohl, Sandya Tirupathi, Petter Strømme, Ton de Grauw, Sébastien Fribourg, Michelle Demos, Amy Pizzino, Sakkubai Naidu, Kether Guerrero, Marjo S. van der Knaap, Geneviève Bernard

    Vydáno 2014
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  7. 7
    SLC9A6 Mutations Cause X-Linked Mental Retardation, Microcephaly, Epilepsy, and Ataxia, a Phenotype Mimicking Angelman Syndrome

    SLC9A6 Mutations Cause X-Linked Mental Retardation, Microcephaly, Epilepsy, and Ataxia, a Phenotype Mimicking Angelman Syndrome Autor Gregor D. Gilfillan, Kaja Kristine Selmer, Ingrid Roxrud, Raffaella Smith, Mårten Kyllerman, Kristin Eiklid, Mette Kroken, Morten Mattingsdal, Thore Egeland, Harald Stenmark, Hans Sjöholm, Andrés Server, Lena Samuelsson, Arnold L. Christianson, Patrick Tarpey, Annabel Whibley, Michael R. Stratton, P. Andrew Futreal, Jon W. Teague, Sarah Edkins, Jozef Gécz, Gillian Turner, F. Lucy Raymond, Charles E. Schwartz, Roger E. Stevenson, Dag E. Undlien, Petter Strømme

    Vydáno 2008
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  8. 8
    CEP290 Mutations Are Frequently Identified in the Oculo-Renal Form of Joubert Syndrome–Related Disorders

    CEP290 Mutations Are Frequently Identified in the Oculo-Renal Form of Joubert Syndrome–Related Disorders Autor Francesco Brancati, Giuseppe Barrano, Jennifer L. Silhavy, Sarah Marsh, Lorena Travaglini, Stephanie Bielas, Maria Amorini, Dominika Zablocka, Hülya Kayserili, Lihadh Al‐Gazali, Enrico Bertini, Eugen Boltshauser, Marc D’Hooghe, Elisa Fazzi, Elif Yosunkaya Fenerci, Raoul C. M. Hennekam, Andrea Kiss, Melissa Lees, Elysa Marco, Shubha R. Phadke, Luciana Rigoli, Stéphane Romano, Carmelo Salpietro, Elliott H. Sherr, Sabrina Signorini, Petter Strømme, Bernard Stuart, László Sztriha, David Viskochil, Adnan Yüksel, Bruno Dallapiccola, Enza Maria Valente, Joseph G. Gleeson

    Vydáno 2007
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  9. 9
    Functional genome-wide siRNA screen identifies KIAA0586 as mutated in Joubert syndrome

    Functional genome-wide siRNA screen identifies KIAA0586 as mutated in Joubert syndrome Autor Susanne Roosing, Matan Hofree, Sehyun Kim, Eric Scott, Brett Copeland, Marta Romani, Jennifer L. Silhavy, Rasim Özgür Rosti, Jana Schroth, Tommaso Mazza, Elide Miccinilli, Maha S. Zaki, Kathryn J. Swoboda, Joanne Milisa-Drautz, William B. Dobyns, Mohamad A. Mikati, Faruk İncecik, Matloob Azam, Renato Borgatti, Romina Romaniello, Rose‐Mary Boustany, Carol L. Clericuzio, Stefano D’Arrigo, Petter Strømme, Eugen Boltshauser, Franco Stanzial, Marisol Mirabelli-Badenier, Isabella Moroni, Enrico Bertini, Francesco Emma, Maja Steinlin, Friedhelm Hildebrandt, Colin A. Johnson, Michael Freilinger, Keith K. Vaux, Stacey Gabriel, Pedro Aza‐Blanc, Susanne Heynen‐Genel, Trey Ideker, Brian David Dynlacht, Ji Eun Lee, Enza Maria Valente, Joon Kim, Joseph G. Gleeson

    Vydáno 2015
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  10. 10
    Delineating the <i>GRIN1</i> phenotypic spectrum

    Delineating the <i>GRIN1</i> phenotypic spectrum Autor Johannes R. Lemke, Kirsten Geider, Katherine L. Helbig, Henrike Heyne, Hannah M. Schutz, Julia Hentschel, Carolina Courage, Christel Depienne, Caroline Nava, Delphine Héron, Rikke S. Møller, Helle Hjalgrim, Dennis Lal, Bernd A. Neubauer, Peter Nürnberg, Hölger Thiele, Gerhard Kurlemann, Georgianne L. Arnold, Vikas Bhambhani, Deborah Bartholdi, Christeen Ramane J. Pedurupillay, Doriana Misceo, Eirik Frengen, Petter Strømme, Dennis Dlugos, Emily S Doherty, Emilia K. Bijlsma, Claudia Ruivenkamp, Mariëtte J.V. Hoffer, Amy B. Goldstein, Deepa Rajan, Vinodh Narayanan, Keri Ramsey, Newell Belnap, Isabelle Schrauwen, Ryan Richholt, Bobby P.C. Koeleman, Joaquim Sá, Carla Mendonça, Carolien G. F. de Kovel, Sarah Weckhuysen, Katia Hardies, Peter De Jonghe, Linda De Meırleır, Mathieu Milh, Catherine Badens, Marine Lebrun, Tiffany Busa, Christine Francannet, Amélie Piton, Erik Riesch, Saskia Biskup, Heinrich Vogt, Thomas Dorn, Ingo Helbig, Jacques L. Michaud, Bodo Laube, Steffen Syrbe

    Vydáno 2016
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  11. 11
    YY1 Haploinsufficiency Causes an Intellectual Disability Syndrome Featuring Transcriptional and Chromatin Dysfunction

    YY1 Haploinsufficiency Causes an Intellectual Disability Syndrome Featuring Transcriptional and Chromatin Dysfunction Autor Michele Gabriele, Anneke T. Vulto‐van Silfhout, Pierre‐Luc Germain, Alessandro Vitriolo, Raman Kumar, Evelyn Douglas, Eric Haan, Kenjiro Kosaki, Toshiki Takenouchi, Anita Rauch, Katharina Steindl, Eirik Frengen, Doriana Misceo, Christeen Ramane J. Pedurupillay, Petter Strømme, Jill A. Rosenfeld, Yunru Shao, William J. Craigen, Christian P. Schaaf, David Rodriguez‐Buritica, Laura S. Farach, Jennifer Friedman, Perla Thulin, Scott D. McLean, Kimberly Nugent, Jenny Morton, Jillian Nicholl, Joris Andrieux, Asbjørg Stray‐Pedersen, Pascal Chambon, Sophie Patrier, Sally Ann Lynch, Susanne Kjærgaard, Pernille Mathiesen Tørring, Charlotte Brasch‐Andersen, Anne Ronan, Arie van Haeringen, Peter J. Anderson, Zöe Powis, Han G. Brunner, Rolph Pfundt, Janneke Schuurs-Hoeijmakers, Bregje W.M. van Bon, Stefan H. Lelieveld, Christian Gilissen, Willy M. Nillesen, Lisenka E.L.M. Vissers, Jozef Gécz, David A. Koolen, Giuseppe Testa, Bert B.A. de Vries

    Vydáno 2017
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  12. 12
    <i>GRIN2B</i>encephalopathy: novel findings on phenotype, variant clustering, functional consequences and treatment aspects

    <i>GRIN2B</i>encephalopathy: novel findings on phenotype, variant clustering, functional consequences and treatment aspects Autor Konrad Platzer, Hongjie Yuan, Hannah M. Schutz, Alexander Winschel, Wenjuan Chen, Chun Hu, Hirofumi Kusumoto, Henrike Heyne, Katherine L. Helbig, Sha Tang, Marcia Willing, Brad T. Tinkle, Darius J. Adams, Christel Depienne, Boris Keren, Cyril Mignot, Eirik Frengen, Petter Strømme, Saskia Biskup, Dennis Döcker, Tim M. Strom, Heather C. Mefford, Candace T. Myers, Alison M. Muir, Amy Lacroix, Lynette G. Sadleir, Ingrid E. Scheffer, Eva H. Brilstra, Mieke M. van Haelst, Jasper J. van der Smagt, Levinus A. Bok, Rikke S. Møller, Uffe Birk Jensen, J Gordon Millichap, Anne T. Berg, Ethan M. Goldberg, Isabelle De Bie, Stéphanie Fox, Philippe Major, Julie R. Jones, Elaine H. Zackai, Rami Abou Jamra, Arndt Rolfs, Richard J. Leventer, John A. Lawson, Tony Roscioli, Floor E. Jansen, Emmanuelle Ranza, Christian Korff, Anna-Elina Lehesjoki, Carolina Courage, Tarja Linnankivi, Andrew R. Smith, Christine M. Stanley, Mark Mintz, Dianalee McKnight, Amy Decker, Wen‐Hann Tan, Mark A. Tarnopolsky, Lauren Brady, Markus Wolff, Lutz Dondit, Hélio Pedro, Sarah Parisotto, Kelly L. Jones, Anup D. Patel, David Neal Franz, Rena Vanzo, Elysa Marco, Judith D. Ranells, Nataliya Di Donato, William B. Dobyns, Bodo Laube, Stephen F. Traynelis, Johannes R. Lemke

    Vydáno 2017
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  13. 13
    Brain monoamine vesicular transport disease caused by homozygous SLC18A2 variants: A study in 42 affected individuals

    Brain monoamine vesicular transport disease caused by homozygous SLC18A2 variants: A study in 42 affected individuals Autor Ken Saida, Reza Maroofian, Toru Sengoku, Tadahiro Mitani, Alistair T. Pagnamenta, Dana Marafi, Maha S. Zaki, Thomas O’Brien, Ehsan Ghayoor Karimiani, Rauan Kaiyrzhanov, Marina Takizawa, Sachiko Ohori, Huey Yin Leong, Gülsen Akay, Hamid Galehdari, Mina Zamani, Ratna Romy, Christopher J. Carroll, Mehran Beiraghi Toosi, Farah Ashrafzadeh, Shima Imannezhad, Hadis Malek, Najmeh Ahangari, Hoda Tomoum, Vykuntaraju K. Gowda, Varunvenkat M. Srinivasan, David Murphy, Natalia Dominik, Hasnaa M. Elbendary, Karima Rafat, Sanem Yılmaz, Seda Kanmaz, Hepsen Mine Serin, Deepa Krishnakumar, Alice Gardham, Anna Maw, Tekki Sreenivasa Rao, Sarah Alsubhi, Myriam Srour, Daniela Buhaş, Tamison Jewett, Rachel Goldberg, Hanan E. Shamseldin, Eirik Frengen, Doriana Misceo, Petter Strømme, José Ricardo Magliocco Ceroni, Chong Ae Kim, Gözde Yeşil, Esma Şengenç, Serhat Güler, Mariam Hull, Mered Parnes, Dilek Aktaş, Banu Anlar, Yavuz Bayram, Davut Pehli̇van, Jennifer E. Posey, Shahryar Alavi, Seyed Ali Madani Manshadi, Hamad Alzaidan, Mohammad Al-Owain, Lama AlAbdi, Ferdous Abdulwahab, Futoshi Sekiguchi, Kohei Hamanaka, Atsushi Fujita, Yuri Uchiyama, Takeshi Mizuguchi, Satoko Miyatake, Noriko Miyake, Reem M. Elshafie, Kamran Salayev, Ulviyya Guliyeva, Fowzan S. Alkuraya, Joseph G. Gleeson, Kristin G. Monaghan, Katherine G. Langley, Hui Yang, Mahsa Motavaf, Saeid Safari, Mozhgan Alipour, Kazuhiro Ogata, André EX Brown, James R. Lupski, Henry Houlden, Naomichi Matsumoto

    Vydáno 2022
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  14. 14
    Endocrine and Growth Abnormalities in 4H Leukodystrophy Caused by Variants in <i>POLR3A</i>, <i>POLR3B</i>, and <i>POLR1C</i>

    Endocrine and Growth Abnormalities in 4H Leukodystrophy Caused by Variants in <i>POLR3A</i>, <i>POLR3B</i>, and <i>POLR1C</i> Autor Félixe Pelletier, Stefanie Perrier, Ferdy Kurniawan Cayami, Amytice Mirchi, Stéphan Saïkali, Luan T. Tran, Nicole Ulrick, Kether Guerrero, Emmanouil Rampakakis, Rosalina M.L. van Spaendonk, Sakkubai Naidu, Daniela Pohl, William T. Gibson, Michelle Demos, Cyril Goizet, Ingrid Tejera-Martin, Ana Potic, Brent L. Fogel, Bernard Brais, Michel Sylvain, Guillaume Sébire, Charles Marques Lourenço, Joshua L. Bonkowsky, Coriene E. Catsman‐Berrevoets, Pedro Soares Pinto, Sandya Tirupathi, Petter Strømme, Ton de Grauw, Dorota Gieruszczak‐Białek, Ingeborg Krägeloh‐Mann, Hanna Mierzewska, Heike Philippi, Julia Rankin, Tahir Atık, Brenda Banwell, William Benko, Astrid Blaschek, Annette Bley, Eugen Boltshauser, Drago Bratkovic, Klára Brožová, Icíar Cimas, Christopher Clough, Bernard Corenblum, Argirios Dinopoulos, Gail Dolan, Flavio Faletra, Raymond Fernandez, Janice M. Fletcher, María Eugenia García, Paolo Gasparini, Janina Gburek‐Augustat, Dolores González Morón, Aline I. Hamati, Inga Harting, Christoph Hertzberg, Alan Hill, Grace M. Hobson, A. Micheil Innes, Marcelo Kauffman, Susan M. Kirwin, Gerhard Kluger, Petra Kolditz, Urania Kotzaeridou, Roberta La Piana, Eriskay Liston, W. McClintock, Meriel McEntagart, Fiona McKenzie, Serge B. Melançon, Anjum Misbahuddin, Mohnish Suri, Fernando Montón, Sébastien Moutton, Raymond P. Murphy, Miriam Nickel, Hüseyin Önay, Simona Orcesi, Ferda Özkınay, Steffi Patzer, Hélio Pedro, Sandra Pekić, M. Pineda, Amy Pizzino, Barbara Plecko, Bwee Tien Poll‐The, Vera Popović, D. Rating, Marie‐France Rioux, N. Rodríguez-Espinosa, Anne Ronan, John R. Østergaard, Elsa Rossignol, Rocío Sánchez‐Carpintero, Anna Schossig, Nesrin Şenbil, Laura Roos, Cathy A. Stevens, Matthis Synofzik, László Sztriha

    Vydáno 2020
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  15. 15
    Balanced chromosomal rearrangements offer insights into coding and noncoding genomic features associated with developmental disorders

    Balanced chromosomal rearrangements offer insights into coding and noncoding genomic features associated with developmental disorders Autor Chelsea Lowther, Mana M. Mehrjouy, Ryan L. Collins, Mads Bak, Olga Dudchenko, Harrison Brand, Zirui Dong, Malene Bøgehus Rasmussen, Huiya Gu, David Weisz, Lusine Nazaryan‐Petersen, Amanda S. Fjorder, Yuan Mang, Allan Lind-Thomsen, Juan M. M. Mendez, Xabier Calle, Anuja Chopra, Claus Hansen, Merete Bugge, Roeland Broekema, Teppo Varilo, Tiia Maria Luukkonen, J.J.M. Engelen, Angela Maria Vianna‐Morgante, Ana Carolina Fonseca, Juliana F. Mazzeu, Halinna Dornelles-Wawruk, Kikue Terada Abe, Joris Vermeesch, Kris Van Den Bogaert, Carolina Sismani, Constantia Aristidou, Paola Evangelidou, Albert Schinzel, Damien Sanlaville, Caroline Schluth–Bolard, Vera M. Kalscheuer, Maren Wenzel, Hyung‐Goo Kim, Katrin Õunap, Laura Roht, Susanna Midyan, María Clara Bonaglia, Anna Lindstrand, Jesper Eisfeldt, Jesper Ottosson, Daniel Nilsson, Maria Pettersson, Elenice Ferreira Bastos, Evica Rajcan‐Separovic, Fatma Sılan, Frenny Sheth, Antonio Novelli, Eirik Frengen, Madeleine Fannemel, Petter Strømme, Nadja Kokalj Vokač, Cornelia Daumer‐Haas, Danilo Moretti‐Ferreira, Deise Helena de Souza, María A. Ramos‐Arroyo, Maria M. Igoa, Lyudmila Angelova, Peter M. Kroisel, Graciela del Rey, Társis Paiva Vieira, M. E. Suzanne Lewis, Hao Wang, Jana Drabova, Markéta Havlovičová, Miroslava Hančárová, Zdeněk Sedláček, Ida Vogel, Tina Duelund Hjortshøj, Rikke S. Møller, Zeynep Tümer, Christina Fagerberg, Lilian Bomme Ousager, Bitten Schönewolf‐Greulich, Mathilde Lauridsen, Juliette Piard, Céline Pebrel‐Richard, Sylvie Jaillard, Nadja Ehmke, Eunice G. Stefanou, Czakó Marta, Kosztolányi György, Ashwin Dalal, Usha R. Dutta, Rashmi Shukla, Fortunato Lonardo, Orsetta Zuffardi, Gunnar Houge, Doriana Misceo, Shahid Mahmood Baig, Alina T. Midro, Natalia Wawrusiewicz‐Kurylonek, Isabel M. Carreira, Joana Barbosa Melo, Laura Rodriguez Martinez

    Vydáno 2022
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